Matches in SemOpenAlex for { <https://semopenalex.org/work/W2046104047> ?p ?o ?g. }
- W2046104047 abstract "The dystonias comprise a group of syndromes characterized by prolonged involuntary muscle contractions resulting in repetitive movements and abnormal postures. Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance pattern with reduced penetrance. Independent of etiology, the disease is characterized by extensive variability in disease phenotype and clinical severity. Recent neuroimaging studies investigating this phenomenon in manifesting and non-manifesting genetic carriers of dystonia have discovered microstructural integrity differences in the cerebello-thalamo-cortical tract in both groups related to disease penetrance. Further study suggests these differences to be specific to subrolandic white matter regions somatotopically related to clinical phenotype. Clinical severity was correlated to the degree of microstructural change. These findings suggest a mechanism for the penetrance and clinical variability observed in dystonia and may represent a novel therapeutic target for patients with refractory limb symptoms." @default.
- W2046104047 created "2016-06-24" @default.
- W2046104047 creator A5002396320 @default.
- W2046104047 creator A5005214919 @default.
- W2046104047 creator A5041539272 @default.
- W2046104047 date "2013-10-10" @default.
- W2046104047 modified "2023-09-26" @default.
- W2046104047 title "Understanding the Anatomy of Dystonia: Determinants of Penetrance and Phenotype" @default.
- W2046104047 cites W154554862 @default.
- W2046104047 cites W1563137494 @default.
- W2046104047 cites W1591778170 @default.
- W2046104047 cites W1653508548 @default.
- W2046104047 cites W1743837094 @default.
- W2046104047 cites W1778028538 @default.
- W2046104047 cites W1778164566 @default.
- W2046104047 cites W1823173701 @default.
- W2046104047 cites W1891730382 @default.
- W2046104047 cites W1914122617 @default.
- W2046104047 cites W1976071070 @default.
- W2046104047 cites W1979486335 @default.
- W2046104047 cites W1980281791 @default.
- W2046104047 cites W1982645430 @default.
- W2046104047 cites W1990538651 @default.
- W2046104047 cites W1990768371 @default.
- W2046104047 cites W1998724633 @default.
- W2046104047 cites W2005293968 @default.
- W2046104047 cites W2009107899 @default.
- W2046104047 cites W2010367876 @default.
- W2046104047 cites W2013328610 @default.
- W2046104047 cites W2016796154 @default.
- W2046104047 cites W2024598550 @default.
- W2046104047 cites W2027139620 @default.
- W2046104047 cites W2027673723 @default.
- W2046104047 cites W2030471788 @default.
- W2046104047 cites W2030916551 @default.
- W2046104047 cites W2036052128 @default.
- W2046104047 cites W2043241250 @default.
- W2046104047 cites W2044769973 @default.
- W2046104047 cites W2053646613 @default.
- W2046104047 cites W2054710797 @default.
- W2046104047 cites W2056455197 @default.
- W2046104047 cites W2065556410 @default.
- W2046104047 cites W2065955009 @default.
- W2046104047 cites W2066277423 @default.
- W2046104047 cites W2070403335 @default.
- W2046104047 cites W2071239089 @default.
- W2046104047 cites W2074669052 @default.
- W2046104047 cites W2074802067 @default.
- W2046104047 cites W2100766925 @default.
- W2046104047 cites W2106780556 @default.
- W2046104047 cites W2113751911 @default.
- W2046104047 cites W2116032729 @default.
- W2046104047 cites W2116616124 @default.
- W2046104047 cites W2118225192 @default.
- W2046104047 cites W2125312351 @default.
- W2046104047 cites W2128947137 @default.
- W2046104047 cites W2129750074 @default.
- W2046104047 cites W2131134103 @default.
- W2046104047 cites W2131732295 @default.
- W2046104047 cites W2133101492 @default.
- W2046104047 cites W2142145583 @default.
- W2046104047 cites W2144740152 @default.
- W2046104047 cites W2151838126 @default.
- W2046104047 cites W2151916085 @default.
- W2046104047 cites W2154435473 @default.
- W2046104047 cites W2157179071 @default.
- W2046104047 cites W2163649738 @default.
- W2046104047 cites W2163999192 @default.
- W2046104047 cites W2164617683 @default.
- W2046104047 doi "https://doi.org/10.1007/s11910-013-0401-0" @default.
- W2046104047 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3883436" @default.
- W2046104047 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24114145" @default.
- W2046104047 hasPublicationYear "2013" @default.
- W2046104047 type Work @default.
- W2046104047 sameAs 2046104047 @default.
- W2046104047 citedByCount "14" @default.
- W2046104047 countsByYear W20461040472014 @default.
- W2046104047 countsByYear W20461040472015 @default.
- W2046104047 countsByYear W20461040472016 @default.
- W2046104047 countsByYear W20461040472017 @default.
- W2046104047 countsByYear W20461040472019 @default.
- W2046104047 countsByYear W20461040472020 @default.
- W2046104047 countsByYear W20461040472021 @default.
- W2046104047 countsByYear W20461040472022 @default.
- W2046104047 countsByYear W20461040472023 @default.
- W2046104047 crossrefType "journal-article" @default.
- W2046104047 hasAuthorship W2046104047A5002396320 @default.
- W2046104047 hasAuthorship W2046104047A5005214919 @default.
- W2046104047 hasAuthorship W2046104047A5041539272 @default.
- W2046104047 hasBestOaLocation W20461040472 @default.
- W2046104047 hasConcept C104317684 @default.
- W2046104047 hasConcept C127716648 @default.
- W2046104047 hasConcept C137627325 @default.
- W2046104047 hasConcept C142724271 @default.
- W2046104047 hasConcept C16568411 @default.
- W2046104047 hasConcept C169760540 @default.
- W2046104047 hasConcept C200544954 @default.
- W2046104047 hasConcept C2778559928 @default.
- W2046104047 hasConcept C2779134260 @default.
- W2046104047 hasConcept C54355233 @default.